A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4256394



Internal ID11192246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235910285..235910285hg38UCSC Ensembl
chr2:236818929..236818929hg19UCSC Ensembl
chr2:236483668..236483668hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1341911
Supporting Variants
SamplesHuRef
Known GenesAGAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4256394
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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